Pathologic fracture revealed a rare syndromic form of genetfi lipodystrophy

摘要

We would like to report a 17-year-old male patient, who presented to our attention with a pathological fracture of the right femur after having kicked a ball during a soccer game (Fig. 1). Growth parameters were under P3 for height (Z-Score: -2.8) and weight (Z-Score: -4.7). The patient was born from an uneventful and uncomplicated pregnancy at term; birth weight was 2990 g. No dysmorphic features were noted. Parents are of Swiss-Italian origin, healthy and not consanguineous. They had another healthy female child.